Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide.
Li Y, He Z, Liu Y, Duan G, Li Z , et al.
The Journal of investigative dermatology •
Recent genomic research has identified variants in the SCN9A gene as a key factor in inherited erythromelalgia (IEM) pathogenesis. In this review, data are collected and analyzed to identify SCN9A sequence variants associated with IEM, demographic patterns, and treatment responses among patients. We describe a spectrum of SCN9A variants associated with IEM. Sex and age distributions among patients with IEM show a predominance of cases with clinical onset before the age of 10 years, whereas sex differences are not pronounced. Some patients with specific pathogenic variants respond to pharmacotherapy, such as p.L858F/H (mexiletine) and V400M, S241T, and I234T (carbamazepine), suggesting potential for personalized therapeutic approaches.